Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities. [ Orphanet : 51188 ]
This is just here as a test because I lose it
Term information
database
cross reference
- DOID:0060640 (MONDO:equivalentTo)
- GARD:0002198 (MONDO:equivalentTo)
- SCTID:723307008 (MONDO:equivalentTo)
- OMIM:602473 (Orphanet:51188/e)
- Orphanet:51188 (OMIM:602473)
- UMLS:C1865349 (Orphanet:51188/e)
- MESH:C535737 (Orphanet:51188/e)
Subsets
gard_rare, ordo_disease
definition
- Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.
exactMatch
- http://purl.obolibrary.org/obo/DOID_0060640
- http://identifiers.org/snomedct/723307008
- http://www.orpha.net/ORDO/Orphanet_51188
- http://linkedlifedata.com/resource/umls/id/C1865349
- https://omim.org/entry/602473
- http://identifiers.org/mesh/C535737
has related synonym
- encephalopathy, ethylmalonic
- EE
- encephalopathy, petechiae, and ethylmalonic aciduria
- syndrome of encephalopathy, petechiae, and ethylmalonic aciduria
- EPEMA syndrome
- eme
id
- MONDO:0011229
seeAlso
- https://rarediseases.info.nih.gov/diseases/2198/ethylmalonic-encephalopathy